Canonical Allele Identifier: CA509202

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1389161
• ClinVar RCV Id: RCV001878155
• dbSNP Id: rs759452317
• ExAC: 1:983255 A / G
• gnomAD v2: 1-983255-A-G
• gnomAD v3: 1-1047875-A-G
• gnomAD v4: 1-1047875-A-G
• MyVariant Identifiers: chr1:g.983255A>G (hg19) ; chr1:g.1047875A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047875A>G , CM000663.2:g.1047875A>G	GRCh38
NC_000001.10:g.983255A>G , CM000663.1:g.983255A>G	GRCh37
NC_000001.9:g.973118A>G	NCBI36
NG_016346.1:g.32753A>G , LRG_198:g.32753A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3731A>G MANE Select	ENSP00000368678.2:p.His1244Arg
ENST00000651234.1:c.3416A>G	ENSP00000499046.1:p.His1139Arg
ENST00000652369.1:c.3416A>G	ENSP00000498543.1:p.His1139Arg
ENST00000379370.6:c.3731A>G	ENSP00000368678.2:p.His1244Arg
ENST00000620552.4:c.3317A>G	ENSP00000484607.1:p.His1106Arg
NM_001305275.1:c.3731A>G	NP_001292204.1:p.His1244Arg
NM_198576.3:c.3731A>G	NP_940978.2:p.His1244Arg
XM_005244749.2:c.3731A>G	XP_005244806.1:p.His1244Arg
XM_006710635.2:c.3731A>G	XP_006710698.1:p.His1244Arg
XM_011541429.1:c.3731A>G	XP_011539731.1:p.His1244Arg
XM_011541430.1:c.2858A>G	XP_011539732.1:p.His953Arg
XM_011541431.1:c.1997A>G	XP_011539733.1:p.His666Arg
XR_946650.1:n.3798A>G
NM_001364727.1:c.3416A>G	NP_001351656.1:p.His1139Arg
XM_005244749.3:c.3731A>G	XP_005244806.1:p.His1244Arg
XM_011541429.2:c.3731A>G	XP_011539731.1:p.His1244Arg
XR_946650.2:n.3802A>G
NM_001305275.2:c.3731A>G	NP_001292204.1:p.His1244Arg
NM_198576.4:c.3731A>G MANE Select	NP_940978.2:p.His1244Arg
NM_001364727.2:c.3416A>G	NP_001351656.1:p.His1139Arg